This cohort illustrates the broad clinical spectrum of STAT1 GOF disease, including infectious, inflammatory, autoimmune, and hematological manifestations, and BCG disease and tuberculosis were observed in a subset of patients, highlighting the complexity of clinical presentation and the importance of comprehensive eva...
T. Cova-Guzmán, Satoshi Okada, M. Tsumura et al.· Frontiers in Immunology· 0 citations
Signal transducer and activator of transcription 1 (STAT1) gain‐of‐function (GOF) disease is associated with chronic mucocutaneous candidiasis, infections, autoimmunity, and immune dysregulation; however, mutation‐level determinants of phenotypic variability remain incompletely defined. We aimed to describe the clinica...
B. C. Duran, C. Aytekin, M. Tsumura et al.· Scandinavian Journal of Immu...· 0 citations
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